Gene table of COL25A1 : collagen type XXV alpha 1 chain

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COL25A1	OMIM link	Number of associated genes	genes
PS135700	FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL	ClinVar, OMIM, HUMSAVAR	link to OMIM	4	TUBB3, PHOX2A, COL25A1, KIF21A

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Collagen biosynthesis and modifying enzymes	R-HSA-1650814	6.98
Extracellular matrix organization	R-HSA-1474244	4.91
Collagen formation	R-HSA-1474290	6.56
Degradation of the extracellular matrix	R-HSA-1474228	6.11
Collagen degradation	R-HSA-1442490	7.03

Associated GO terms for Molecular function

GO term	GO ID	GO IC
sulfur compound binding	GO:1901681	4.32
beta-amyloid binding	GO:0001540	6.21
carbohydrate derivative binding	GO:0097367	2.03
amide binding	GO:0033218	4.14
glycosaminoglycan binding	GO:0005539	4.42
binding	GO:0005488	0.18
peptide binding	GO:0042277	4.22
heparin binding	GO:0008201	4.68